TGFBI-related Corneal Dystrophies

Clinical Findings, Cell Biology, and Genetics

Inbunden, Engelska, 2025

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This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies. Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins.

Produktinformation

Utgivningsdatum2025-02-22
Mått178 x 254 x 13 mm
Vikt504 g
FormatInbunden
SpråkEngelska
Antal sidor128
FörlagSpringer Nature Switzerland AG
ISBN9789819601301

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Oftalmologi inom Medicin
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1. Introduction.- 2. What is TGFBIp and what is its function?.- a.What are TGFBI corneal dystrophies.-I. History of TGFBI corneal dystrophies in Europe.- 3. Classification and mutations of TGFBI Corneal Dystrophies.- a. Dystrophies with deposits primarily in Bowman layer.- I. Reis–Bücklers corneal dystrophy (RBCD).- II. Thiel–Behnke corneal dystrophy (TBCD).- b. Dystrophies with deposits primarily in the stroma.- I. Lattice corneal dystrophy with TGFBI mutation.- II. Classic lattice corneal dystrophy (Lattice corneal dystrophy type 1; LCD1).- III. Variants of lattice corneal dystrophy (III, IIIA, I/IIIA, and IV).- c. Granular corneal dystrophy.- I. Granular corneal dystrophy type 1 (GCD1).- II. Granular corneal dystrophy type 2 (GCD2, Avellino CD, Combined granular lattice CD).- 4. Molecular pathogenesis of GCD2 and TGFBI corneal dystrophies.- 5. Proteolysis of TGFBIp.- 6. Genetics and gene therapy on the TGFBI corneal dystrophies.